A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985771



Internal ID12984010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46249054..46719026hg38UCSC Ensembl
Innerchr14:46718257..47188229hg19UCSC Ensembl
Innerchr14:45788007..46257979hg18UCSC Ensembl
Innerchr14:45788007..46257979hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38469973
hg19469973
hg18469973
hg17469973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751278
Supporting Variants
SamplesSPC_43
Known GenesLINC00871, RPL10L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985771
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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